India Completes Phase One of GenomeIndia Project, Sequencing 10,000 Genomes

India Achieves Milestone with Completion of GenomeIndia Project Phase One

India has achieved a milestone by completing Phase One of the GenomeIndia Project. This research sequenced the genomes of 10,000 individuals from 83 diverse population groups within the nation. The initiative, supervised by the Department of Biotechnology (DBT) under the orchestration of the Ministry of Science and Technology, aims to transform healthcare, diagnostics, and therapeutics in the country, facilitating insights into the genetic makeup of its broad and diverse population.

Exploring DNA Sequencing

The heart of the GenomeIndia Project lies in Next-Generation Sequencing (NGS). This technology decodes DNA rapidly, precisely, and cost-effectively. NGS maps the full human genetic code, which contains about 3.05 billion base pairs, and investigates specific genetic variations across varied populations. The first phase of GenomeIndia has identified 7 million novel genetic variations, some of which are unique to Indian populations. One notable finding among them is the MYBPC3 mutation, associated with early cardiac arrest, which affects 4.5% of Indians—a mutation scarcely found in other populations.

India Meets the Genomic Era

The data is capable of revolutionizing the Indian health sector. Customized healthcare for individuals based on their genetic composition enables precision medicine. This will enhance disease prevention, diagnosis, and treatment through genetic insights. Moreover, understanding how different populations respond to therapy will improve drug efficacy and decrease adverse reactions. The study also helps in identifying rare genetic disorders, which are often more prevalent in particular communities due to practices like endogamy (marrying within a specific community).

As Kumarasamy Thangaraj, a CSIR Bhatnagar Fellow, emphasized in an interview with Nature Genetics:

Collaborative Research & Ethical Data Practices

The GenomeIndia Project is the result of collaboration among more than 20 leading Indian institutions, including CSIR, AIIMS, and IISc, ensuring a wide and varied genetic representation. The data ⁽²⁾ has been obscured and encrypted at the Indian Biological Data Centre (IBDC). Accessibility of this data is as per the BIOTECH-PRIDE guidelines to ensure it is used ethically and securely while protecting individual privacy.

Stepping into Phase Two

As Phase One is completed, the project enters Phase Two, focusing on genomic sequencing ⁽⁴⁾ from patients with specific diseases like cancer, diabetes, and neurological disorders. By comparing the genetic material of affected individuals with that of healthy counterparts, researchers hope to identify genetic markers and the root causes of these diseases, leading to more targeted diagnostics and customized therapies.

India: A Rising Force in Global Genomics

Much global research has contributed to a better understanding of genetic diversity and disease, and India’s GenomeIndia Project adds vital data to the universal scientific community. Some of the prominent global projects include:

• The Human Genome Project (US): Completed in 2003, it was the first to sequence the human genome, offering a pioneering reference for genetics across the globe.

• The 1000 Genomes Project: Sequenced over 1,000 genomes to list global genetic variations.

• The 100,000 Genomes Project (UK): Focused on patients with rare diseases and cancer.

• GenomeAsia100K and ICGC: Conducted significant genome mapping across Asia, including India.

GenomeIndia: A Turning Point

For decades, global genomic research has largely relied on populations of European descent, leaving a critical void in the context of diseases affecting other populations, particularly in India. The GenomeIndia Project helps eliminate these gaps by developing a comprehensive Indian reference genome. This provides more accurate diagnostics, personalized treatments, and affordable genetic testing for common and rare diseases prevalent in India. The initiative not only benefits India but also contributes to global genetic knowledge.

References:

1. YouTube. What Is the Genome India Project? | Genome Sequencing in India | Precision Medicine | BYJU'S IAS. January 31, 2023. Accessed April 25, 2025. https://www.youtube.com/watch?v=C1MYCK4HSqs.

2. Muthu, Meera Senthilingam. “Mapping India’s Genomic Diversity.” Nature India, April 9, 2025. Accessed April 25, 2025. https://www.nature.com/articles/d44151-025-00024-2.

3. Rajiv Gandhi Cancer Institute and Research Centre. “Decoding India’s Genetic Diversity: The Genome India Project.” RGCIRC Blog. Accessed April 25, 2025. https://www.rgcirc.org/blog/decoding-indias-genetic-diversity-the-genome-india-project/.

4. GenomeAsia100K Consortium. “The GenomeAsia 100K Project Enables Genetic Discoveries across Asia.” Nature 576, no. 7785 (2019): 106–111. https://www.nature.com/articles/nature15393.

(Input from various sources)

(Rehash/Dr. Anjaly KTK/MSM)